DOCSLIB.ORG

Epidermolysis Bullosa Precision Panel Overview Indications Clinical

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Epidermolysis Bullosa Precision Panel Overview Indications Clinical Epidermolysis Bullosa Precision Panel Overview Epidermolysis Bullosa (EB) is a group of genetic bullous disorders characterized by skin fragility and blistering of the skin and mucous membranes in response to minimal trauma. Although clinically and genetically very heterogeneous, it has been classified into four main types according to the layer of the skin in which blistering occurs: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa and Kindler epidermolysis bullosa. The clinical heterogeneity results from the different distribution of the blisters, severity of cutaneous lesions and extracutaneous signs. Onset of symptoms usually occurs at birth or shortly after and is transmitted both in an autosomal dominant and recessive pattern. The Igenomix Epidermolysis Bullosa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blisters ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Epidermolysis Bullosa Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: ‐ Superficial blisters with minimal trauma located in the mucosa: oral, nasopharyngeal, ocular, genitourinary, GI or respiratory ‐ Crusted erosions ‐ Family history of blistering disease ‐ Nail dystrophy Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. 1 - Early initiation of treatment with a multidisciplinary team in the form of medical care for optimization of wound healing, nutritional management, and surgical care for reconstruction or malignancy. - Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. - Improvement of delineation of genotype-phenotype correlation. Genes & Diseases % GENE GENE OMIM DISEASES INHERITANCE* COVERAGE HGMD** (20X) 210 of ATP2C1 Familial Benign Chronic Pemphigus AD 99.95 210 CD151 Nephropathy With Pretibial Epidermolysis Bullosa And Deafness AR 100 3 of 3 CDSN Hypotrichosis, Peeling Skin Syndrome AD,AR 99.88 12 of 13 CHST8 Peeling Skin Syndrome AR 100 1 of 1 117 of COL17A1 Junctional Epidermolysis Bullosa, Epithelial Recurrent Erosion Dystrophy AD,AR 100 117 Autosomal Dominant Epidermolysis Bullosa Dystrophica, Autosomal Recessive Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa Pruriginosa , Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails, Transient Bullous Dermolysis Of The 861 of COL7A1 Newborn, Acral Dystrophic Epidermolysis Bullosa, Centripetalis Recessive AD,AR 100 863 Dystrophic Epidermolysis Bullosa, Dominant Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Simplex Superficialis , Generalized Dominant Dystrophic Epidermolysis Bullosa, Pretibial Dystrophic Epidermolysis Bullosa, Recessive Dystrophic Epidermolysis Bullosa Inversa Autosomal Recessive Exfoliative Ichthyosis, Ichthyosis Bullosa Ofsiemens- CSTA AR 100 5 of 5 like, Acral Peeling Skin Syndrome Congenital Erythroderma With Palmoplantar Keratoderma, Hypotrichosis, DSG1 AD,AR 99.89 42 of 42 And Hyper-IgeE, Striate Palmoplantar Keratoderma Arrhythmogenic Right Ventricular Dysplasia, Familial Isolated Dilated 167 of DSG2 AD 99.38 Cardiomyopathy 169 DSG4 Hypotrichosis Simplex, Monilethrix AR 99.97 17 of 17 Arrhythmogenic Right Ventricular Dysplasia, Familial Dilated Cardiomyopathy With Woolly Hair And Keratoderma, Lethal Acantholytic 366 of DSP AD,AR 99.91 Epidermolysis Bullosa, Keratosis Palmoplantaris Striata, Skin Fragility- 369 Woolly Hair Syndrome, Carvajal Syndrome DST Autosomal Recessive Epidermolysis Bullosa Simplex AR 99.08 19 of 19 EXPH5 Autosomal Recessive Epidermolysis Bullosa AR 98.34 9 of 10 FERMT1 Kindler Syndrome AR 99.83 78 of 81 FLG2 Peeling Skin Syndrome AR 99.95 4 of 4 GRIP1 Fraser Syndrome AR 100 17 of 17 Interstitial Lung Disease, Nephrotic Syndrome, And Congenital ITGA3 AR 99.2 11 of 11 Epidermolysis Bullosa ITGA6 Epidermolysis Bullosa Junctionalis With Pyloric Atresia AR 100 10 of 10 Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis 115 of ITGB4 Bullosa Simplex, Weber-Cockayne Type , Junctional Epidermolysis Bullosa, AD,AR 99.12 115 Non-Herlitz Type, Aplasia Cutis Congenita, Bullosa JUP Naxos Diseas , Lethal Acantholytic Epidermolysis Bullosa AD,AR 100 56 of 56 KLHL24 Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss AD 99.96 8 of 8 Bullous Erythroderma Ichthyosiformis Congenita Of Brocq, Ichthyosis Hystrix, Curth-Macklin Type , Cyclic Ichthyosis With Epidermolytic KRT1 AD,AR 100 67 of 67 Hyperkeratosis , Keratosis Palmoplantaris Striata III, Palmoplantar Keratoderma Bullous Erythroderma Ichthyosiformis Congenita Of Brocq , Ichthyosiform Congenital Reticular Erythroderma, Ichthyosis, Cyclic Ichthyosis With KRT10 AD,AR 98.32 69 of 76 Epidermolytic Hyperkeratosis, Autosomal Dominant Epidermolytic Ichthyosis Dermatopathia Pigmentosa Reticularis, Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type, Autosomal Recessive Epidermolysis 132 of KRT14 AD,AR 100 Bullosa Simplex, Epidermolysis Bullosa Simplex, Koebner Type , 132 Epidermolysis Bullosa Simplex, Weber-Cockayne Type, Naegeli Syndrome, 2 Epidermolysis Bullosa Simplex With Mottled Pigmentation, Naegeli- Franceschetti-Jadassohn Syndrome Dowling-Degos Disease, Epidermolysis Bullosa Herpetiformis, Dowling- Meara Type, Epidermolysis Bullosa Simplex With Mottled Pigmentation, Autosomal Recessive Epidermolysis Bullosa Simplex, Epidermolysis Bullosa Simplex Koebner Type , Epidermolysis Bullosa Simplex, Weber-Cockayne 165 of KRT5 AD,AR 99.99 Type, Epidermolysis Bullosa Simplex With Circinate Migratory Erythema, 165 Epidermolysis Bullosa Simplex With Mottled Pigmentation, Epidermolysis Bullosa Simplex, Generalized Intermediate , Epidermolysis Bullosa Simplex, Generalized Severe , Localized Epidermolysis Bullosa Simplex Junctional Epidermolysis Bullosa Herlitz Type, Junctional Epidermolysis LAMA3 AR 97.94 66 of 66 Bullosa Non-Herlitz Type, Laryngoonychocutaneous Syndrome Amelogenesis Imperfecta, Generalized Hypoplastic Typemicrodontia 119 of LAMB3 Generalized, Junctional Epidermolysis Bullosa Herlitz Type, Junctional AD,AR 99.99 120 Epidermolysis Bullosa Non-Herlitz Type Junctional Epidermolysis Bullosa Herlitz Type, Junctional Epidermolysis LAMC2 Bullosa Non-Herlitz Type, Junctional Epidermolysis Bullosa Inversa, AR 100 41 of 41 Junctional Epidermolysis Bullosa Generalized Intermediate and Severe MMP1 Autosomal Recessive Epidermolysis Bullosa Dystrophica AR 100 4 of 4 PKP1 Ectodermal Dysplasia/Skin Fragility Syndrome AR 100 18 of 18 Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis 113 of PLEC Bullosa Simplex With Muscular Dystrophy, Epidermolysis Bullosa Simplex AD,AR 99.98 113 With Nail Dystrophy, Epidermolysis Bullosa Simplex Ogna Type SERPINB8 Peeling Skin Syndrome AR 99.87 3 of 3 TGM5 Acral Peeling Skin Syndrome AR 100 26 of 26 *Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial. **Number of clinically relevant mutations according to HGMD Methodology Contact us Call +34 963 905 310 or send an email to [email protected] for any of the following objectives: • Get more information about the test. • Request your kit. • Request a pick up of the kit after collecting the sample. References 1. Fine, J. D., Bruckner-Tuderman, L., Eady, R. A., Bauer, E. A., Bauer, J. W., Has, C., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., Mellerio, J. E., Moss, C., Murrell, D. F., Shimizu, H., Uitto, J., Woodley, D., … Zambruno, G. (2014). Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. Journal of the American Academy of Dermatology, 70(6), 1103–1126. https://doi.org/10.1016/j.jaad.2014.01.903 2. Mariath, L. M., Santin, J. T., Schuler-Faccini, L., & Kiszewski, A. E. (2020). Inherited epidermolysis bullosa: update on the clinical and genetic aspects. Anais brasileiros de dermatologia, 95(5), 551–569. https://doi.org/10.1016/j.abd.2020.05.001 3. Lykova, S. G., Maksimova, Y. V., Nemchaninova, O. B., Guseva, S. N., Omigov, V. V., & Aidagulova, S. V. (2018). Vrozhdennyĭ bulleznyĭ épidermoliz [Inherited epidermolysis bullosa]. Arkhiv patologii, 80(4), 54–60. https://doi.org/10.17116/patol201880454 4. Has, C., & Fischer, J. (2019). Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. Experimental dermatology, 28(10), 1146–1152. https://doi.org/10.1111/exd.13668 3 5. Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/ 6. Fine, J. (2010). Inherited epidermolysis bullosa: Past, present, and future. Annals of the New York Academy of Sciences, 1194(1), 213-222. doi:10.1111/j.1749-6632.2010.05463.x 7. Sawamura, D., Nakano, H., & Matsuzaki, Y. (2010). Overview of epidermolysis bullosa. The Journal of Dermatology, 37(3), 214-219. doi:10.1111/j.1346-8138.2009.00800.x 8. Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 4 .
Load more

Recommended publications
  • Idiopathic Spiny Keratoderma: a Report of Two Cases and Literature Review
    Idiopathic Spiny Keratoderma: A Report of Two Cases and Literature Review Jessica Schweitzer, DO,* Matthew Koehler, DO,** David Horowitz, DO*** *Intern, Largo Medical Center, Largo, FL **Dermatology Resident, Third Year, College Medical Center/Western University, Long Beach, CA ***Dermatology Residency Program Director, College Medical Center/Western University, Long Beach, CA Abstract Spiny keratoderma is a rare and likely underreported condition that presents with punctate hyperkeratotic growths localized to the palms and soles. We present two cases of clinically diagnosed spiny keratoderma. Although the lesions were asymptomatic, patients are at risk of an underlying internal malignancy with this condition, so diagnosis is crucial. Neither men were seeking treatment for the lesions when they were discovered, suggesting that this condition may be much more common than reported. Patients with histories of manual labor, increased UV exposure, and non-melanoma skin cancer (NMSC) may also be at higher risk for developing spiny keratoderma.1 The epidemiology, histopathologic features, differential diagnosis, and current treatments for spiny keratoderma are reviewed. Introduction Case 2 enthusiast for his entire life, spending significant Spiny keratoderma is a rare palmoplantar A 67-year-old Caucasian male presented with a time using his hands to maintain and fire his keratoderma that presents with keratotic, pinpoint one-year history of insidiously growing, pinpoint weapons and many hours outside without sun papules on the palms and soles. There are both hyperkeratotic papules projecting from his palms protection. The patient was referred back to his hereditary and acquired forms. When found, bilaterally (Figures 4-5). He presented to the clinic primary care physician for internal evaluation.
    [Show full text]
  • Palmoplantar Keratoderma with Progressive Gingivitis and Recurrent Pyodermas
    Palmoplantar Keratoderma With Progressive Gingivitis and Recurrent Pyodermas Tyler A. Moss, DO; Anne P. Spillane, MD; Sam F. Almquist, MD; Patrick E. McCleskey, MD; Oliver J. Wisco, DO Practice Points Papillon-Lefèvre syndrome (PLS) is an autosomal-recessive inherited transgredient palmoplantar kerato- derma (PPK) that is associated with gingivitis and recurrent pyodermas. The symptoms associated with PLS are thought to be due to cathepsin C gene, CTSC, mutations. CTSC is expressed in epithelial regions commonly affected by PLS and also plays a role in the activation of immune and inflammatory responses. Papillon-Lefèvre syndrome must be differentiated from other conditions causing PPK, such as Haim-Munk syndrome, Greither syndrome, mal de Meleda, Clouston syndrome, Vohwinkel syndrome, and Olmsted syndrome. Treatment of PLS includesCUTIS keratolytics such as urea and/or salicylic acid comb ined with oral retinoids. Active gingivitis may be treated with combined use of amoxicillin and metronidazole. Papillon-Lefèvre syndrome (PLS) is a rare inher- Case Report ited palmoplantar keratoderma (PPK) that is asso- A 30-year-old woman presented to the dermatology ciated with progressive gingivitis and recurrent clinic with erythematous hyperkeratotic plaques on pyodermas.Do We present a caseNot exhibiting classic the palmsCopy and soles. The plaques extended onto features of this autosomal-recessive condition the dorsal aspects of the fingers, toes, hands, and and review the current understanding of its patho- feet (Figures 1 and 2). The patient had psoriasiform physiology, diagnosis, and treatment. Addition- plaques on the extensor surfaces of the knees and ally, a review of pertinent transgredient PPKs is elbows (Figure 3) along with a history of slow- undertaken, with key and distinguishing features progressing gingivitis and periodontal disease that of each syndrome highlighted.
    [Show full text]
  • Revertant Mosaicism in a Human Skin Fragility Disorder Results from Slipped Mispairing and Mitotic Recombination
    Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination Dimitra Kiritsi, … , Leena Bruckner-Tuderman, Cristina Has J Clin Invest. 2012;122(5):1742-1746. https://doi.org/10.1172/JCI61976. Brief Report Dermatology Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that undergo self-regeneration, including the skin. Genetic reversion may occur through different mechanisms, and in a single individual, the mutation can be repaired in various ways. Here we describe a disseminated pattern of revertant mosaicism observed in 6 patients with Kindler syndrome (KS), a genodermatosis caused by loss of kindlin-1 (encoded by FERMT1) and clinically characterized by patchy skin pigmentation and atrophy. All patients presented duplication mutations (c.456dupA and c.676dupC) in FERMT1, and slipped mispairing in direct nucleotide repeats was identified as the reversion mechanism in all investigated revertant skin spots. The sequence around the mutations demonstrated high propensity to mutations, favoring both microinsertions and microdeletions. Additionally, in some revertant patches, mitotic recombination generated areas with homozygous normal keratinocytes. Restoration of kindlin-1 expression led to clinically and structurally normal skin. Since loss of kindlin-1 severely impairs keratinocyte proliferation, we predict that revertant cells have a selective advantage that allows their clonal expansion and, consequently, the improvement of the skin condition. Find the latest version: https://jci.me/61976/pdf Brief report Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination Dimitra Kiritsi,1 Yinghong He,1 Anna M.G. Pasmooij,2 Meltem Onder,3 Rudolf Happle,1 Marcel F.
    [Show full text]
  • Graft Versus Host Disease and How to Report It
    Graft versus Host Disease and how to report it Daniel Weisdorf MD University of Minnesota Transplant Events Day-8 0 1mo 3mo 6mo Conditioning HSCT Engraftment Mucositis Organ toxicity (VOD) Acute GVHD Chronic GVHD Infections Bacterial ----CMV---- Varicella----- --Fungus--------- Transplant Events Day-8 0 1mo 3mo 6mo Conditioning HSCT Engraftment Mucositis Organ toxicity (VOD) Acute GVHD Chronic GVHD Infections Bacterial ----CMV---- Varicella----- --Fungus--------- 1 Acute GVHD Chronic GVHD Skin: Lichen planus, Hyper/ hypo pigmentation, Dermatitis ichthyosis, onychodystrophy, morphea, + scleroderma, hair changes. Hepatitis Oral: sicca, atrophy, lichenoid, + Hyperkeratosis GI: wasting, dysphagia, Enteritis odynophagia, strictures Eye: keratoconjunctivitis sicca Lungs: Bronchiolitis obliterans Others: myofascial, genital Acute GVHD Chronic GVHD Dermatitis Rash + Hepatitis High bilirubin + Enteritis Nausea/vomiting/ diarrhea Acute GVHD Chronic GVHD Skin: Lichen planus, Scaly abnormal pigmentation, Dry skin, onychodystrophy, abnormal nails scleroderma, thick skin hair changes. Oral: sicca, atrophy, lichenoid, Dry mouth GI: wasting, dysphagia, Weight loss odynophagia, trouble swallowing Eye: keratoconjunctivitis sicca Dry eyes Lungs: Bronchiolitis obliterans Obstruction Others: myofascial, muscle stiffness Genital vaginal narrowing 2 Graft vs. Leukemia Effect • Less leukemia relapse follows more GVHD • Acute and particularly Chronic GVHD limit relapse Risk Factors for GVHD Acute GVHD Chronic GVHD Increased risk Increased risk HLA mismatch Older
    [Show full text]
  • Erythrokeratodermia Variabilis Et Progressiva Allelic to Oculo-Dento
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector COMMENTARY See related article on pg 1540 translocated into the plasma membrane. Once expressed on the cell surface, the hemichannel docks with a connexon of an adjacent cell to form a channel that Erythrokeratodermia Variabilis et is termed gap junction. Connexons can form either homotypic (docking of two Progressiva Allelic to Oculo-Dento- identical connexons), heterotypic (docking of two dissimilar homomeric Digital Dysplasia connexons), or heteromeric (docking of two heteromeric connexons) channels Sabine Duchatelet1,2 and Alain Hovnanian1,2,3 (Mese et al., 2007). These diverse Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with combinations of connexins create clinical and genetic heterogeneity, most often transmitted in an autosomal different types of channels, each having dominant manner, caused by mutations in GJB3 and GJB4 genes encoding unique properties (ionic conductance, connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report permeability, sensitivity to voltage, or for the first time de novo dominant mutations in GJA1 encoding the ubiquitous pH). Of note, several connexins may also Cx43 in patients with EKVP. These results expand the genetic heterogeneity of form functional nonjunctional hemi- EKVP and the human disease phenotypes associated with GJA1 mutations. They channels, although their physiological disclose that EKVP is allelic to oculo-dento-digital dysplasia, a rare syndrome relevance remains uncertain (Pfenniger previously known to be caused by dominant GJA1 mutations. et al., 2010). Mutations in 11 connexin genes cause a variety of genetic dis- Journal of Investigative Dermatology (2015) 135, 1475–1478.
    [Show full text]
  • COVID-19 and RARE SKIN DISEASES
    COVID-19 and RARE SKIN DISEASES Newsletter n°4, 8th June 2021 Dear all, We hope that this letter finds you well! Thank you to those who have included patients and collected the data! We would like to remind you to complete the online eCRF via the link you have received. If you any have any issues don’t hesitate to contact us. Please note that, since the pandemic is still continuing, the study has been expanded for one year. The monitoring is ongoing and the queries will be sent regularly. If needed, the sites will be contacted to discuss and validate the answers, and check if the study is proceeding well. 64 patients are included in the study: 5 in Germany, 6 in Czech Republic, 8 in Italy, 11 in Lithuania and 34 in France. The diseases concerned are the following: Bullous pemphigoid (9/64), Recessive dystrophic Epidermolysis bullosa (9/64), Dominant dystrophic Epidermolysis bullosa (8/64), Epidermolysis bullosa (7/64), Hidradenitis suppurativa (7/64), X-linked hypohidrotic ectodermal dysplasia (4/64), Lamellar ichtyosis (2/64) and Incontinentia pigmenti (2/64). The other diseases are presented each by 1 patient: Pemphigus vulgaris, Pemphigus foliaceous, Mucous membrane pemphigoid, IgA Linear Dermatosis, Dermatitis herpetiformis, Kindler Epidermolysis bullosa, Kerathinopathic ichthyosis, Darier disease, Linear morphea, Cloves syndrome, Microcystic lymphatic malformation, Hemihypertrophy (Overgrowth syndrome), Adamantiades - Behçet's disease, Hailey Hailey disease, Pityriasis rubra pilaris and Neurofibromatosis type 1 (Figure 1 below). 10 Figure 1: Type of Rare skin diseases 5 0 A large majority of patients visited a hospital physician (42%: 27/64), 28% visited a General practitioner (18/64) and 23% consulted a physician remotely (15/64).
    [Show full text]
  • Palmoplantar Keratoderma: Rare Case Report
    Case Report Journal of Volume 12:4, 2021 Cytology & Histology ISSN: 2157-7099 Open Access Palmoplantar Keratoderma: Rare Case Report Dr. Ayushi Bansal1, Dr. Hemlata Munde2*, Dr. Munish Gupta3 and Dr. Santosh Munde4 1Senior Resident, Department of Pathology, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 2Professor and Head of Department of Pathology, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 3Assistant Professor, Department of medicine, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 4Professor and Head of Department of Orthopaedics, Kalpana Chawla Government Medical College, Karnal, Haryana, India. Abstract Palmoplantar keratodermas(PPK) are group of cornification disorders characterized by epidermal hyperkeratotic lesions involving the palms and soles. A 50years old healthy male, presented with history of multiple punctate hyperkeratotic papules since last 5 years. Keywords: Palmoplantar keratoderma • Punctate •Hyperkeratotic papules Abbreviations: PPK: Palmoplantar keratodermas • PUVA: Psoralen plus Ultraviolet A • PPPK: Punctate Palmoplantar keratodermas • USG: Ultrasound Sonography• VRDL: Venereal Disease Research Laboratory Test • ELISA: Enzyme-Linked Immunosorbent Assay Introduction Mucosal surfaces were not involved. Biopsy sample was received. On histopathological examination of biopsy revealed massive hyperkeratosis over sharply limited area with depression of malphigian layer below general Palmoplantar keratoderma (PPK), clinically and genetically comprises level of epidermis. There was increase in the thickness of granular layer. The of heterogenous group of disorders characterised by hyperkeratosis of dermis was free of inflammation. Compilation of clinical and laboratory data palms and soles [1]. It can be hereditary or acquired. Hereditary PPK can helped to conclude the diagnosis of Palmoplantar Keratoderma-Punctate be further divided into three major categories: diffuse, focal, and punctate type.
    [Show full text]
  • Abstract Book
    Abstract Book First World Conference on Ichthyosis August 31 – September 2, 2007 Münster, Germany Organized by Network for Ichthyoses and related keratinization disorders (NIRK) together with Selbsthilfe Ichthyose e.V. and EU-Coordination Action GENESKIN Contacts: H. Traupe, Münster, Email: [email protected] B. Willis, Münster, Email: [email protected] Barbara Kleinow, Email: [email protected] Geske Wehr, Email: [email protected] Location: Lecture Hall Location:Department of Dermatology University Hospital Von Esmarch-Str. 58 48149 Münster Germany Friday, August 31, 2007 page Workshop on clinical diversity and diagnostic standardization D. Metze, Münster Histopathology of ichthyoses: Clues for diagnostic standardization ..................................... 19 I. Hausser, Heidelberg Ultrastructural characterization of lamellar ichthyosis: A tool for diagnostic standardization 13 H. Verst, Münster The data base behind the NIRK register: a secure tool for genotype/phenotype analysis 34 V. Oji, Münster Classification of congenital ichthyosis ................................................................................... 20 M. Raghunath, Singapore Congenital Ichthyosis in South East Asia ............................................................................. 25 Keratinization disorders and keratins I. Hausser, Heidelberg Ultrastructure of keratin disorders: What do they have in common? ................................... 12 M. Arin, Köln Recent advances in keratin disorders .................................................................................
    [Show full text]
  • Emaciation, Congestive Heart Failure, and Systemic Amyloidosis In
    Case Report Emaciation, Congestive Heart Failure, and Systemic Amyloidosis in Severe Recessive Dystrophic Epidermolysis Bullosa: Possible Internal Complications Due to Skin-Derived Inflammatory Cytokines Derived from the Injured Skin Yoshiaki Matsushima y , Kento Mizutani y, Hiroyuki Goto y, Takehisa Nakanishi, Makoto Kondo, Koji Habe, Kenichi Isoda, Hitoshi Mizutani and Keiichi Yamanaka * Department of Dermatology, Mie University Graduate School of Medicine, Tsu, Mie 514-8507, Japan; [email protected] (Y.M.); [email protected] (K.M.); [email protected] (H.G.); [email protected] (T.N.); [email protected] (M.K.); [email protected] (K.H.); [email protected] (K.I.); [email protected] (H.M.) * Correspondence: [email protected]; Tel.: +81-59-231-5025; Fax: +81-59-231-5206 These authors contributed equally to this work. y Received: 2 August 2020; Accepted: 7 September 2020; Published: 14 September 2020 Abstract: Inherited epidermolysis bullosa (EB) is a rare genetic skin disorder characterized by epithelial tissue fragility. Recessive dystrophic epidermolysis bullosa (RDEB) is the most severe form, characterized by the presence of blisters, erosion, and ulcer formation, leading to scarring and contraction of the limbs. RDEB is also associated with extra-cutaneous complications, including emaciation, congestive heart failure, and systemic amyloidosis. The main cause of these clinical complications is unknown; however, we hypothesized that they are caused by elevated circulating inflammatory cytokines overproduced by injured keratinocytes. We addressed this phenomenon using keratin-14 driven, caspase-1 overexpressing, transgenic (KCASP1Tg) mice in which injured keratinocytes release high levels of IL-1α and β.
    [Show full text]
  • WES Gene Package Multiple Congenital Anomalie.Xlsx
    Whole Exome Sequencing Gene package Multiple congenital anomalie, version 5, 1‐2‐2018 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired‐end sequenced on the Illumina platform (outsourced). The aim is to obtain 8.1 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA‐MEM algorithm (reference: http://bio‐bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x A4GALT [Blood group, P1Pk system, P(2) phenotype], 111400 607922 101 100 100 99 [Blood group, P1Pk system, p phenotype], 111400 NOR polyagglutination syndrome, 111400 AAAS Achalasia‐addisonianism‐alacrimia syndrome, 231550 605378 73 100 100 100 AAGAB Keratoderma, palmoplantar,
    [Show full text]
  • Epidermolysis Bullosa (EB)
    OR Preparation for Patients with Epidermolysis Bullosa (EB) Background: Patients with EB have a mutation in their keratin or collagen genes. As a result the skin is not properly anchored and mere touch can cause the skin to slough or blister. Many different subtypes have been identified but the most common variant we see in our patient population is recessive dystrophic EB. The children appear as burn patients and are frequently wrapped in total body burn dressings. NO ADHESIVES MAY BE USED IN THESE PATIENTS. You will note the following in these children. Airway: the tissues of the lining of the mouth, tongue and esophagus are affected making eating difficult. Mouth opening is SEVERELY LIMITED and these patients are always considered difficult airways. FOI is the preferred method to intubate since we try to minimize contact with the mucosa. Digits: continued skin slough and scarring results in absence of fingernails and the fingers often fuse together. Cardiac: Over time, some children develop a cardiomyopathy. Anemia is common as is continued infections, so these children often appear to be in a high-output state. Renal: Many children develop renal failure over time. Hemotologic: Continued bleeding from wounds and poor nutrition causes anemia. Infections: These children are often colonized with MRSA in their wounds and many act as though in low-grade sepsis. You will see tachycardia and anesthetic resistance. IV access: Difficult though not as impossible as you would imagine. NO ELASTIC TOURNIQUETS! A hand tourniquet is sufficient. Alcohol wipes are not usually used. A small amount of baby shampoo on moistened gauze dabbed on and off with moist gauze may be used GI tract: Esophageal strictures are common due to sloughing and scarring of the esophagus, so patients coming in for these procedures often cannot handle their oral secretions and are drooling.
    [Show full text]
  • Ichthyosis: Case Report in a Colombian Man with Genetic Alterations in ABCA12 and HRNR Genes Ruben D
    Arias‑Pérez et al. BMC Med Genomics (2021) 14:140 https://doi.org/10.1186/s12920‑021‑00987‑y CASE REPORT Open Access Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes Ruben D. Arias‑Pérez1, Salomón Gallego‑Quintero1, Natalia A. Taborda1 , Jorge E. Restrepo2, Renato Zambrano‑Cruz3 , William Tamayo‑Agudelo3, Patricia Bermúdez4, Constanza Duque4, Ismael Arroyave4, Johanna A. Tejada‑Moreno5, Andrés Villegas‑Lanau5, Alejandro Mejía‑García5, Wildeman Zapata6 , Juan C. Hernandez6* and Gina Cuartas‑Montoya3 Abstract Background: Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its diferent types, harlequin ichthyosis (HI) stands out due to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases. Case presentation: Here, we presented the case of a 19 years old male patient who was a premature infant and exhibited clinical features consistent with HI, including bright yellow hyperkeratotic plates with erythematous fssures that covered his entire body like a collodion baby. Currently, he exhibited erythroderma, photosensitivity, ectropion, auricular pavilion alterations, and musculoskeletal disorders, such as equinovarus feet, fngers, hands, and hypoplastic feet with contractures in fexion and marked difculty in fne motor skills.
    [Show full text]